Variant report

Variant	esv3431035
Chromosome Location	chr7:58025210-58054331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
2	chr4:94030168..94030688-chr7:58043283..58043804,2	MCF-7	breast:

Extended variants
information (count: 3587 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3587 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201175051	chr7:58025233-58025234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202208726	chr7:58025257-58025258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113961113	chr7:58025264-58025265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186162296	chr7:58025270-58025271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191835243	chr7:58025273-58025274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543956004	chr7:58025287-58025288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200354004	chr7:58025299-58025300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544918622	chr7:58025308-58025309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563583951	chr7:58025312-58025313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201037195	chr7:58025329-58025330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112639717	chr7:58025330-58025331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542807513	chr7:58025331-58025332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187351923	chr7:58025341-58025342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562083836	chr7:58025370-58025371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201789645	chr7:58025372-58025373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563803353	chr7:58025381-58025382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547866587	chr7:58025412-58025413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566093404	chr7:58025413-58025414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533346240	chr7:58025425-58025426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552128042	chr7:58025436-58025437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200306154	chr7:58025447-58025448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200860001	chr7:58025448-58025449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201295198	chr7:58025451-58025452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192141292	chr7:58025472-58025473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555935892	chr7:58025483-58025484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567705836	chr7:58025486-58025487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183173839	chr7:58025503-58025504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35871520	chr7:58025513-58025514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187917963	chr7:58025514-58025515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192967377	chr7:58025524-58025525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557021098	chr7:58025545-58025546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200683962	chr7:58025548-58025549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575489067	chr7:58025552-58025553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201379104	chr7:58025565-58025566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542519253	chr7:58025576-58025577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199697322	chr7:58025597-58025598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561141713	chr7:58025606-58025607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200789375	chr7:58025628-58025629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560023719	chr7:58025640-58025641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528259945	chr7:58025647-58025648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184200965	chr7:58025656-58025657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189519768	chr7:58025674-58025675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533409433	chr7:58025682-58025683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192342405	chr7:58025688-58025689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549311783	chr7:58025692-58025693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567535669	chr7:58025733-58025734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569910348	chr7:58025755-58025756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201656556	chr7:58025758-58025759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531238142	chr7:58025789-58025790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549402900	chr7:58025809-58025810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
head and neck squamous cell carcinoma	17671120	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:58021800-58026400	Weak transcription	Liver	Liver
2	chr7:58022400-58026400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:58025400-58026400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:58026400-58027800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:58026400-58028000	ZNF genes & repeats	Liver	Liver
6	chr7:58026400-58036600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr7:58026400-58042800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr7:58026400-58043000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:58027200-58027600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr7:58032200-58038400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr7:58032400-58032800	Active TSS	Aorta	Aorta
12	chr7:58032400-58043000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr7:58035200-58037000	ZNF genes & repeats	Liver	Liver
14	chr7:58037000-58039400	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr7:58037800-58040000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr7:58038800-58039200	Active TSS	Aorta	Aorta
17	chr7:58038800-58040000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:58040400-58040600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr7:58040400-58040800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr7:58040600-58042400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:58041400-58043000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr7:58041800-58042600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr7:58041800-58042800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr7:58042000-58042200	ZNF genes & repeats	NH-A	brain
25	chr7:58042000-58042600	ZNF genes & repeats	HUVEC	blood vessel
26	chr7:58042200-58042600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:58042400-58042600	ZNF genes & repeats	Brain Substantia Nigra	brain
28	chr7:58042400-58042800	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr7:58043000-58044800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:58043000-58044800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:58043000-58044800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:58044800-58054200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr7:58044800-58054400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:58044800-58054400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr7:58045000-58054200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr7:58049200-58049400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr7:58049600-58050000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:58050400-58050600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:58050400-58050600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:58050400-58050600	ZNF genes & repeats	Fetal Kidney	kidney
41	chr7:58050400-58050600	ZNF genes & repeats	Left Ventricle	heart
42	chr7:58050400-58050800	ZNF genes & repeats	Dnd41	blood
43	chr7:58050600-58050800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr7:58050600-58051000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:58052600-58053200	Active TSS	Fetal Heart	heart
46	chr7:58052800-58054200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr7:58052800-58054400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr7:58053200-58054400	ZNF genes & repeats	Fetal Heart	heart
49	chr7:58053200-58054400	ZNF genes & repeats	Gastric	stomach
50	chr7:58054000-58054200	Enhancers	Aorta	Aorta

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